Genetic Mapping Flashcards

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1
Q

What are the 3 approaches to mapping?

A

Linkage-family based
Association-GWAS
Genome sequencing-whole genome or whole exome

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2
Q

Genes far apart on a chromosome: linked or not linked?

A

not linked

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3
Q

recombination frequency of 0 means…

A

completely linked

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4
Q

recombination frequency of 0.5 means…

A

unlinked

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5
Q

If 2 genes are far apart, is crossing over more or less likely?

A

more likely

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6
Q

The recombination frequency is 0.125. This means that out of 8 people….

A

one is a recombinant

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7
Q

What is map distance?

A

The observed recombination between loci.

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8
Q

Linkage disequilibrium

A

Non-random association between alleles in a population. Haplotype frequencies diverge from what is expected of allele frequencies.

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9
Q

What is a haplotype?

A

A group of genes within an organism that were inherited together from a single parent.

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10
Q

LOD score

A
  • determines tightness of linkage
  • tells you estimate of recombination frequency between two loci
  • tells you how strong evidence is that there’s linkage between those loci
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11
Q

LOD > or = 3 indicates….

A
  • Genes are linked

- Data observed 1000x more likely if linked than if by chance

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12
Q

What are the 2 types of association studies?

A
  1. case-control

2. cross-sectional/cohort

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13
Q

What do case-control studies compare?

A

Compares individuals with disease to a matching group of controls.

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14
Q

Odds Ratio (OR) formula

A

OR=ad/bc

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15
Q

If OR is 1, this means….

A

no association

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16
Q

If OR is statistically significantly different from 1, this means….

A

association

17
Q

What is a cohort or cross-sectional study?

A

A random sample of the entire population.

Cohort-who develops disease?
Cross-sectional-who has disease?

18
Q

RR equation

A

RR = (a/a+b)/(c/c+d)

19
Q

If RR is 1, this means….

A

no association

20
Q

If RR is statistically significantly different from 1, this means….

A

association